Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.11012626G>A , CM000668.2:g.11012626G>A | GRCh38 |
| NC_000006.11:g.11012859G>A , CM000668.1:g.11012859G>A | GRCh37 |
| NC_000006.10:g.11120845G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354666.4:c.4-1817C>T MANE Select | ENSP00000346693.3:n.4-1817C>T | |
| ENST00000354666.3:c.4-1817C>T | ENSP00000346693.3:n.4-1817C>T | |
| NM_017770.3:c.4-1817C>T | NP_060240.3:n.4-1817C>T | |
| NM_017770.4:c.4-1817C>T MANE Select | NP_060240.3:n.4-1817C>T |